ClinVar Miner

List of variants reported as benign for amino acid or protein metabolism disease with epilepsy by ClinGen PAH Variant Curation Expert Panel

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP
NM_000277.3(PAH):c.1242C>T (p.Tyr414=) rs1801152
NM_000277.3(PAH):c.1278T>C (p.Asn426=) rs59326968
NM_000277.3(PAH):c.168+19T>C rs17842947
NM_000277.3(PAH):c.60+62C>T rs1522296
NM_000277.3(PAH):c.707-7A>T rs62508624
NM_000277.3(PAH):c.735G>A (p.Val245=) rs1042503
NM_000277.3(PAH):c.963C>T (p.Leu321=) rs61747292
NM_000277.3(PAH):c.969+43G>T rs1522306

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